Author/Authors :
Sim, Wooho Department of Internal Medicine - Institute of Chest Diseases - Yonsei University College of Medicine - Seoul, Korea , Kim, Song Yee Department of Internal Medicine - Institute of Chest Diseases - Yonsei University College of Medicine - Seoul, Korea , Han, Jinu Department of Ophthalmology - Institute of Vision Research - Severance Hospital - Yonsei University College of Medicine - Seoul, Korea , Rim, Tyler Hyungtaek Department of Ophthalmology - Institute of Vision Research - Severance Hospital - Yonsei University College of Medicine - Seoul, Korea , Lee, Jin Gu Department of Thoracic and Cardiovascular Surgery - Severance Hospital - Yonsei University College of Medicine - Seoul, Korea , Paik, Hyo Chae Department of Thoracic and Cardiovascular Surgery - Severance Hospital - Yonsei University College of Medicine - Seoul, Korea , Park, Moo Suk Department of Internal Medicine - Institute of Chest Diseases - Yonsei University College of Medicine - Seoul, Korea
Abstract :
Hermansky-Pudlak syndrome (HPS) is a group of rare, heterogeneously inherited, autosomal
recessive disorders, presenting with oculocutaneous albinism, bleeding diathesis, and pulmonary disease. Pulmonary fibrosis is one of the fatal systemic manifestations of HPS [1,2].
Lung transplantation may be the only treatment option for patients with HPS, who have severe pulmonary fibrosis. There are several reports of patients who have undergone lung transplantation, despite bleeding diathesis observed in HPS. El-Chemaly et al. [3] have reported
six patients who were evaluated for lung transplantation, and three of the patients survived
after receiving lung transplantation. Umei et al. [4] have reported the successful use of venovenous extracorporeal membrane oxygenation (VV-ECMO) as a bridge in a patient with HPS
associated with severe pulmonary fibrosis.
